Canonical Allele Identifier: CA353688067
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2091882
ClinVar RCV Id: RCV003015826
MyVariant Identifiers: chr3:g.81695577C>A (hg19) chr3:g.81646426C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646426C>A , CM000665.2:g.81646426C>A GRCh38
NC_000003.11:g.81695577C>A , CM000665.1:g.81695577C>A GRCh37
NC_000003.10:g.81778267C>A NCBI36
NG_011810.1:g.120375G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.748G>T MANE Select ENSP00000410833.2:p.Gly250Cys
ENST00000429644.6:c.748G>T ENSP00000410833.2:p.Gly250Cys
ENST00000489715.1:c.625G>T ENSP00000419638.1:p.Gly209Cys
ENST00000498468.1:n.298G>T
NM_000158.3:c.748G>T NP_000149.3:p.Gly250Cys
NM_000158.4:c.748G>T MANE Select NP_000149.4:p.Gly250Cys
Search 100 bp 5'
Search 100 bp 3'